Canonical Allele Identifier: CA372253028

Gene: TG

Linked Data

• dbSNP Id: rs1383783074
• gnomAD v2: 8-134145730-T-C
• gnomAD v3: 8-133133486-T-C
• gnomAD v4: 8-133133486-T-C
• MyVariant Identifiers: chr8:g.134145730T>C (hg19) ; chr8:g.133133486T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.133133486T>C , CM000670.2:g.133133486T>C	GRCh38
NC_000008.10:g.134145730T>C , CM000670.1:g.134145730T>C	GRCh37
NC_000008.9:g.134214912T>C	NCBI36
NG_015832.1:g.271526T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220616.9:c.8014T>C MANE Select	ENSP00000220616.4:p.Tyr2672His
ENST00000220616.8:c.8014T>C	ENSP00000220616.4:p.Tyr2672His
ENST00000519178.5:c.3380T>C
ENST00000519543.5:c.2413T>C	ENSP00000430430.1:p.Tyr805His
ENST00000521107.1:c.226T>C	ENSP00000430161.1:p.Tyr76His
ENST00000522691.1:n.100T>C
ENST00000523756.5:c.4669T>C
NM_003235.4:c.8014T>C	NP_003226.4:p.Tyr2672His
XM_005251038.3:c.7822T>C	XP_005251095.1:p.Tyr2608His
XM_006716622.2:c.7951T>C	XP_006716685.1:p.Tyr2651His
XM_005251038.4:c.7822T>C	XP_005251095.1:p.Tyr2608His
XM_006716622.3:c.7951T>C	XP_006716685.1:p.Tyr2651His
XM_017013793.1:c.7948T>C	XP_016869282.1:p.Tyr2650His
XM_017013794.1:c.7879T>C	XP_016869283.1:p.Tyr2627His
XM_017013795.1:c.7843T>C	XP_016869284.1:p.Tyr2615His
XM_017013796.1:c.7795T>C	XP_016869285.1:p.Tyr2599His
XM_017013797.1:c.7753T>C	XP_016869286.1:p.Tyr2585His
NM_003235.5:c.8014T>C MANE Select	NP_003226.4:p.Tyr2672His